exRNAdisease

Entry Detail

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General Information

Database ID: exR0078534 RNA Name: PCBP1 RNA Type: mRNA Chromosome: chr2 Starnd: + Coordinate: Start Site(bp): 70087477 End Site(bp): 70089203 External Links: ENSG00000169564

Disease Information

Disease Name: Fragile X Syndrome Disease Category: Congenital, Hereditary, and Neonatal Diseases and Abnormalities MeSH ID: D005600 Type: Diseases Category/Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alias: Fragile X Syndromes//Syndrome, Fragile X//Syndromes, Fragile X//Marker X Syndrome//Marker X Syndromes//Syndrome, Marker X//Syndromes, Marker X//Mental Retardation, X-Linked, Associated With Marxq28//X-Linked Mental Retardation and Macroorchidism//X Linked Mental Retardation and Macroorchidism//Fragile X Mental Retardation Syndrome//Martin-Bell Syndrome//Martin Bell Syndrome//Syndrome, Martin-Bell//Fra(X) Syndrome//FRAXE Syndrome//FRAXE Syndromes//Syndrome, FRAXE//Syndromes, FRAXE//Mental Retardation, X-Linked, Associated With Fragile Site Fraxe//Fragile X-F Mental Retardation Syndrome//Mar (X) Syndrome//FRAXA Syndrome//FRAXA Syndromes//Syndrome, FRAXA//Syndromes, FRAXA

Expression Detail

GEO ID: GSE83556 Description: Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions Experimental Design: Disease vs Control Case Disease Type: Fragile X Syndrome Case Disease SubType: NA Case Sample: Fragile X Syndrome Control Sample: Normal Number of Case: 22 Number of Control: 18 Number of Samples: 40

Regulatory Relationship

mRNA targets: Gene Symbol Chromosome Start Site(bp) End Site(bp) Strand AATF chr17 36948954 37056871 + ABL1 chr9 130713016 130887675 + AC011448.1 chr19 19516227 19536076 + AC104581.2 chr17 7925931 7930622 - AC114490.2 chr1 34981533 35031741 - AC245033.1 chr15 82536788 82573194 - ACOT9 chrX 23701055 23766475 - ACOX3 chr4 8366282 8440723 - ACP1 chr2 264140 278283 + ACTG1 chr17 81509971 81523847 - ACTR1B chr2 97655939 97664044 - ACVR2B chr3 38453890 38493142 + ADRA2C chr4 3766348 3768526 + AHSA1 chr14 77457870 77469472 + AJM1 chr9 136844415 136848801 + AL132780.3 chr14 22946270 22982258 - ALDOA chr16 30064164 30070457 + miRNA targets: NA circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC011825.3 chr18 32018829 32111779 + AC020928.2 chr19 36773712 36775908 - AC023509.1 chr12 53441741 53467528 + AC087190.3 chr16 9104848 9113181 + AC091564.7 chr11 6610883 6616594 - AL118506.1 chr20 63861212 63864293 - AL132639.2 chr14 39265703 39267061 - Display:

Experiment Detail

GEO ID: GSE83556 Sample Source: Amniotic Fluid Source Fraction: Supernatant Platform: GPL570 Method: Microarray Num of detected RNA Type: 1 Num of detected RNAs of this Type: 17063 Sample treatment protocol: RNA was extracted from 5-15 mL amniotic fluid supernatant (centrifugation at 350g, 4C, 10, min). RNA Extract protocol: All samples were processed using the Qiagen Circulating Nucleic Acid kit with an on-column DNase digestion step to remove genomic DNA. The RNA was then purified and concentrated with the RNeasy MinElute Clean up kit and eluted in RNasefree water. RNA library preparation protocol: RNA was converted to cDNA and amplified using the Ovation Pico WTA kit V2 and then purified with the QIAquick PCR Purification kit. Samples were labeled using the Encore Biotin Module (NuGEN, San Carlos, CA)Samples were labeled using the Encore Biotin Module (NuGEN, San Carlos, CA).

Reference

PMID: NA Title: NA Author: NA Journal: NA Description: NA